Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade

2021 ◽  
Vol 14 (4) ◽  
pp. e241680
Author(s):  
Aditya Sanjeevi ◽  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Shriraam Mahadevan
Keyword(s):  
Adrenal Insufficiency ◽  
Vitamin D Supplementation ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Primary Amenorrhoea ◽  
Autoimmune Polyglandular Syndrome ◽  
Nail Changes ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type

A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had chronic mucocutaneous candidiasis and nail changes suggestive of ectodermal dystrophy. Detailed history taking revealed that she had never attained menarche. Serum biochemistries showed hyponatraemia, hyperkalaemia, and hypocalcaemia (sodium, 127 mEq/L; potassium, 6 mEq/L; and albumin-corrected calcium, 6 mg/dL). Adrenocorticotropic hormone-stimulated cortisol (16.7 mcg/dL) was suboptimal favouring adrenal insufficiency. She was started on hydrocortisone and fludrocortisone supplementation. Additionally, the parathyroid hormone was inappropriately low (3.8 pg/mL) confirming hypoparathyroidism. Oral calcium and active vitamin D supplementation were added. With the above clinical and biochemical picture, namely, clustering of primary amenorrhoea, adrenal insufficiency and hypoparathyroidism, the diagnosis pointed towards autoimmune polyglandular syndrome. Genetic workup revealed a deletion in exon 8 of the autoimmune regulator gene confirming the diagnosis of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy/autoimmune polyglandular syndrome type 1 .

scholarly journals A case of late manifestation of primary adrenal insufficiency in the autoimmune polyglandular syndrome type 1

2019 ◽  
Vol 47 (2) ◽  
pp. 175-179
Author(s):  
V. V. Troshina ◽  
T. A. Grebennikova ◽  
Zh. E. Belaya
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Case ◽  
Clinical Symptoms ◽  
Syndrome Type ◽  
Primary Adrenal Insufficiency ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyendocrine Syndrome ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Timely Treatment

The article describes a clinical case of primary adrenal insufficiency which manifested at an atypically advanced age. Primary adrenal insufficiency combined with other clinical symptoms suggested the autoimmune polyendocrine syndrome type 1. Subsequently, the diagnosis was confirmed by the results of genetic testing. The particulars of the clinical case include the age of patient at manifestation of the disease (49  years). The lack of treatment resulted in dramatic clinical decompensation. This clinical case is intended to draw clinicians' attention to the necessity of detection of primary adrenal insufficiency and appropriate and timely treatment. Taking into account eventual diagnostic problems, it is necessary to raise awareness about this disease among practicing doctors of various specialties.

scholarly journals Autoimmune Polyglandular Syndrome Type 1

2012 ◽  
Vol 2 ◽  
pp. 62 ◽  
Author(s):  
Vedeswari C. Ponranjini ◽  
S Jayachandran ◽  
L Kayal ◽  
K Bakyalakshmi
Keyword(s):  
Oral Candidiasis ◽  
The Body ◽  
Chronic Mucocutaneous Candidiasis ◽  
Enamel Hypoplasia ◽  
Autoimmune Polyglandular Syndrome ◽  
Aire Gene ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Individual Disease

Autoimmune Polyglandular Syndrome (APS) Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case of a 35-year-old female patient with a history of seizure from the age of 11 years, who was managed with anticonvulsant drugs. With worsening of the seizure episodes, patient was diagnosed to have hypoparathyroidism together with the manifestations of oral candidiasis, nails dystrophy, enamel hypoplasia, and hypogonadism. A diagnosis of APS-1 was considered. The facility for genetic analysis of the AIRE gene mutation was not accessible, as the test costs were prohibitive and not affordable for the patient. Patient management was directed to treating individual disease components. However, cerebral and dental changes were irreversible.

scholarly journals Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence

2021 ◽  
Vol 12 ◽  
Author(s):  
Roberto Perniola ◽  
Alessandra Fierabracci ◽  
Alberto Falorni
Keyword(s):  
Specific Antigen ◽  
Addison’S Disease ◽  
The Self ◽  
Current Evidence ◽  
Addison's Disease ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

The autoimmune polyglandular syndrome type 1 (APS1) is caused by pathogenic variants of the autoimmune regulator (AIRE) gene, located in the chromosomal region 21q22.3. The related protein, AIRE, enhances thymic self-representation and immune self-tolerance by localization to chromatin and anchorage to multimolecular complexes involved in the initiation and post-initiation events of tissue-specific antigen-encoding gene transcription. Once synthesized, the self-antigens are presented to, and cause deletion of, the self-reactive thymocyte clones. The clinical diagnosis of APS1 is based on the classic triad idiopathic hypoparathyroidism (HPT)—chronic mucocutaneous candidiasis—autoimmune Addison's disease (AAD), though new criteria based on early non-endocrine manifestations have been proposed. HPT is in most cases the first endocrine component of the syndrome; however, APS1-associated AAD has received the most accurate biochemical, clinical, and immunological characterization. Here is a comprehensive review of the studies on APS1-associated AAD from initial case reports to the most recent scientific findings.

scholarly journals Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia / Klinične, Genetske nn Imunološke Značilnosti Otrok In Mladostnikov Z Avtoimunskim Poliglandularnim Sindromom Tipa 1 V Sloveniji

2015 ◽  
Vol 54 (2) ◽  
pp. 112-118 ◽  
Author(s):  
Nina Bratanic ◽  
Kai Kisand ◽  
Magdalena Avbelj Stefanija ◽  
Tadej Battelino ◽  
Katarina Trebusak Podkrajsek
Keyword(s):  
Growth Retardation ◽  
Type I Interferons ◽  
Chronic Mucocutaneous Candidiasis ◽  
Type I ◽  
Syndrome Type ◽  
Clinical Genetic ◽  
Autoimmune Polyglandular Syndrome ◽  
Aire Gene ◽  
Autoimmune Polyglandular Syndrome Type

Abstract Introduction. Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder, caused by mutations in the AIRE gene. The major components of APS-1 are chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Clinical, genetic and immunological characteristics of Slovenian paediatric APS-1 patients were investigated. Methods. Existing medical records of 15 APS-1 patients were rewieved, when necessary, additional clinical and laboratory investigations were issued. AIRE gene analysis was performed to identify causative mutations, and autoantibodies against type I interferons were measured by luminescence immunoprecipitation system. Results. Patients had one to eight different manifestations of the disease. CMC was present in all, HP in 12/15 (80 %) and AD in 8/15 (53 %) patients. Growth retardation, due to hyposomatotropism, growth hormone resistance, autoimmune thyroiditis, corticosteroid treatment, malabsorption or secretory failure of exocrine pancreas, was observed in altogether 7 (46 %) patients. Six different AIRE gene mutations were detected and p.R257X mutation was present in 63.3 % of pathological alleles. Antibodies against type I interferons were detected in all patients. Conclusion. APS-1 is a rare disorder with a broad spectrum of clinical manifestations, which, if unrecognized or inadequately treated may be fatal. AIRE gene mutational analysis and autoantibodies against type I interferons are important in early identification of the disease. The aetiology of growth retardation was shown to be extremely diverse, frequently caused by less characteristic manifestations. APS-1 may affect patients’ quality of life in numerous ways, and may cause great psychosocial burden leading to depression and suicidal thoughts even in paediatric patients.

scholarly journals SAT-333 Autoimmune Polyglandular Syndrome Type 1 in a Patient with Bipolar Disorder

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Aakash Rajwani ◽  
Ari Eckman
Keyword(s):  
Bipolar Disorder ◽  
Vitamin D ◽  
Adrenal Insufficiency ◽  
Dystrophic Calcification ◽  
Syndrome Type ◽  
Psychiatric Facility ◽  
Autoimmune Polyglandular Syndrome ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyglandular Syndrome Type

Abstract Autoimmune Polyglandular Syndrome Type 1 (APS-1) is clinically defined as the presence of at least two components of the classic triad of hypoparathyroidism, adrenal insufficiency and mucocutaneous candidiasis. It is commonly seen amongst Finns, Sardinians and Iranian Jews and is a very rare condition, with a challenging set of management. 50-year old female with a known past medical history of Bipolar disorder, Primary Adrenal Insufficiency, Hypothyroidism, Alopecia was transferred from an acute psychiatric facility for medical clearance. Patient was noted to have findings initially suggestive of Subarachnoid Hemorrhage on a CT scan of the Head which was later deemed to be likely dystrophic calcification. During her stay on the medical floors, patient was found to be unresponsive and hypotensive, after a bout of agitation. She had to be urgently intubated and started on stress doses of steroids (Hydrocortisone 100 mg every 8 hours) and was upgraded to the Intensive Care Unit (ICU). Patient was eventually successfully weaned off the ventilator and steroid doses were slowly tapered. During her hospital course she was noted to have gradually decreasing Calcium levels, down to a corrected Calcium level of 7.6. Further workup for the hypocalcemia revealed a Vitamin D Level of 12, and Parathyroid Hormone (PTH) level of 0. Patient was subsequently started on adequate Calcium and Vitamin D supplementation for the same. After a few days when the family was located and contacted through social work support, and a more thorough history was obtained, it was found that one out of the patient’s three sisters had a similar constellation of deficiencies. Patient had previously been diagnosed with a polyendocrine syndrome, however she was irregular with her medication compliance and follow-up outpatient with her endocrinologist due to her persistent psychiatric issues and poor social support. APS-1 is an autosomal recessive disorder caused by mutation in AIRE, the autoimmune regulator gene which is hypothesized to be playing an important role in the generation of regulatory T cells. Although the complete pathogenesis is unclear, mutation in generation of these regulatory cells leads to autoantibody formation. Hypoparathyroidism or Chronic persistent Mucocutaneous Candidiasis is usually the first manifestation seen during adolescence and adrenal insufficiency usually manifests later. A variation of other autoimmune syndromes can be observed, with Hypothyroidism, Type-1 Diabetes Mellitus and Primary Hypogonadism being a few of them. Treatment primarily involves replenishment of the hormones of the underperforming gland. Management of a complex syndrome like APS-1 in a patient with psychiatric disabilities can be challenging and needs a multi-disciplinary approach involving the endocrinologist, the primary care physician and the psychiatrist.

scholarly journals Autoimmune polyglandular syndrome type 3 variant in rheumatoid arthritis

2020 ◽  
Vol 58 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Taro Horino ◽  
Masami Ogasawara ◽  
Osamu Ichii ◽  
Yoshio Terada
Keyword(s):  
Rheumatoid Arthritis ◽  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Clinical Course ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Type 3

AbstractIntroduction. Although type 1 diabetes mellitus is largely associated with autoimmune thyroid disease and this entity has been recently referred to as autoimmune polyglandular syndrome type 3 variant, the autoimmune polyglandular syndrome type 3 variant in patients with rheumatoid arthritis has not been reported so far. We herein describe the first case of rheumatoid arthritis that was associated with autoimmune polyglandular syndrome type 3 variant.Case report. A 77-year-old woman with a 15-year history of rheumatoid arthritis (RA) and a 10-year history of type 2 diabetes mellitus (T2D) presented with polyarthralgia and hyperglycaemia. Methotrexate 16 mg/week had been started from the onset and was continued, and adalimumab 40 mg/day was started for RA. Insulin treatment was also started for the diabetes. Laboratory examinations revealed high levels of C-reactive protein (CRP), rheumatoid factor, anti-cyclic citrullinated peptide antibody, and matrix metalloprotease 3. She was admitted multiple times as the symptoms recurred after treatment. Subsequently, based on the clinical course and investigations, she was diagnosed with type 1 diabetes mellitus and Graves’ disease occurring during the course of RA and T2D. Her clinical course improved after reinforcement of insulin therapy and the addition of thiamazole therapy.Conclusion. In patients with rheumatoid arthritis, the autoimmune polyglandular syndrome type 3 variant should be considered as the cause of the deterioration.

scholarly journals Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Jill D. Jacobson ◽  
Julia R. Broussard ◽  
Courtney Marsh ◽  
Brandon Newell
Keyword(s):  
Smooth Muscle ◽  
Adrenal Insufficiency ◽  
Liver Enzymes ◽  
Syndrome Type ◽  
Alopecia Universalis ◽  
Autoimmune Polyglandular Syndrome ◽  
Serologic Testing ◽  
Methotrexate Treatment ◽  
Autoimmune Polyglandular Syndrome Type

Autoimmune polyglandular syndrome type 1 (APS1) is a progressive life-threatening illness with no known cure. Current treatments involve replacement of the hormone deficiencies that result from autoimmune destruction of multiple endocrine organs. We report on a girl whose disease was progressing rapidly until she began on immunosuppressive agents. A healthy 6-year-old girl with no remarkable medical history presented with new onset hypocalcemic seizures and primary hypoparathyroidism. Howell-Jolly bodies consistent with autoimmune hyposplenism were also noted. Genetic testing revealed compound heterozygosity for 2 disease-associated variants in the autoimmune regulator (AIRE) gene. She later developed elevated liver enzymes, primary adrenal insufficiency, and alopecia totalis. Serologic testing revealed antibodies to 21-hydroxylase, intrinsic factor, and smooth muscle. Hydrocortisone was initiated for adrenal insufficiency. Shortly afterwards, her liver enzymes normalized, and her smooth muscle antibody levels began to decline. Serologic testing performed at age 11 revealed seropositivity for glutamic acid decarboxylase (GAD) antibodies, antinuclear antibodies, and Sjögren syndrome A (SSA) antibodies. At age 12, she was given 2 doses of rituximab. Hair loss rapidly progressed to alopecia totalis and then to alopecia universalis, at which time oral methotrexate treatment was initiated. For the past 7 years while on glucocorticoid and methotrexate treatment, our patient has displayed normalization of 2 antibodies, a lack of progression to additional autoimmune diseases, and experienced reversal of alopecia universalis.

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